Jim Kelly and his wife Maria still remember the day they received a call from the hospital telling them that according to test results, their daughter Adriana, now age 7, was born with galactosemia.
A recent article in WGN9 describes the reaction of the new parents. They were shocked and confused when they were told that the disease can be life-threatening if not caught early. Jim and Maria were given a simple explanation that their baby’s system cannot break down the sugar in dairy.
Maria followed directions. She took the baby off breast milk and substituted it with soy milk.
Galactosemia, which is inherited, is the result of gene mutations and enzyme deficiency. The disease is rare, with type 1 occurring in one out of every thirty to sixty thousand babies. It tends to affect those of Irish ancestry and African Americans living in North America.
The Motivation
Jim is a firefighter. He saves lives. Therefore, it is natural for him to want to help other parents. For this disease and others, Jim knows that having the babies tested at birth may save a life. He decided awareness is key and it would be worth the effort.
About the Screening
The hospital’s discovery was the result of a screening authorized by the Illinois Department of Public Health. Jim found out that this test and others were not standard operating procedures in all states.
Needless to say, lives are lost due to the lack of proper testing. Other families were not as fortunate.
Jim was genuinely motivated to save other babies. One of the people Jim reached out to is Dwayne Johnson known as “The Rock” or “the Great One”. Dwayne has been heralded as the Most Electrifying Man in the entertainment industry. Jim has a lot riding on his challenge to Dwayne Johnson. It is “out there” waiting for a response from the Rock. Jim personally donated $50,000 to Shriner’s Hospital. In Jim’s own words the $50,000 will go to “anyone who can facilitate the pullup contest between the Rock and Jim”.
About Testing
Testing the babies requires a small amount of blood to be drawn from the baby’s heel about twenty-four hours after the baby is born. A baby with galactosemia will have less than normal GALT enzymes in its blood. The healthcare staff will follow up through genetic testing to determine the baby’s type of disease
Rare Diseases in the U.S.
Jim told the Chicago News that over seven thousand rare diseases in the U.S. equate to about thirty million cases. That was more than enough to motivate Jim and Maria, who is a public school teacher, to create the Orphan Disease Collective. Their logic was that everyone probably knows someone with a rare disease that may currently be undetected.
Jim, a fitness enthusiast, came up with the idea of a Max Set Challenge. He explains that his goal is to do a max set of push-ups or pull-ups and then challenge others to do their favorite exercise. It can be swimming, running, cycling, or just about anything. Jim wants to create these exercise goals so that people can associate them with the foundation. He is hoping that people will accept the challenge for a good cause.
